Precision medicine company takes aim at genetically based epilepsy
Spectrum of gene variants linked to cystic fibrosis in nonwhites
In this issue
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study
Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention
Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?
Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia
12th International CHARGE syndrome conference proceedings
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A ( FLNA ) mutation
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R
Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
Muenke syndrome: An international multicenter natural history study
Family perspectives about Down syndrome
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome
Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature
CLTC as a clinically novel gene associated with multiple malformations and developmental delay
Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease
Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability
Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene
Novel features of 3q29 deletion syndrome: Results from the 3q29 registry
Evaluation of proton-coupled folate transporter ( SLC46A1 ) polymorphisms as risk factors for neural tube defects and oral clefts
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature
FTO variant associated with malformation syndrome
Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit
Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome
Trisomy 4 mosaicism: Delineation of the phenotype
Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts
Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia
An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing
Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up
Stippled calcification in an infant with a recurrent SRCAP gene mutation
Long-term treatment of neurofibromatosis 1 with ketotifen. A report of three cases
9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition
Letter to the editor: Response to two recent articles regarding achondroplasia
Response: “Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy” and “is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?”